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Symbol
Name
ID
Pfkm
phosphofructokinase, muscle
MGI:97548
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Increased total bilirubin
Hyperuricemia
Elevated circulating creatine kinase concentration
Elevated circulating aldolase concentration
Increased circulating lactate dehydrogenase concentration
Reduced muscle 6-phosphofructokinase activity
Increased muscle glycogen content
Hematuria
Exercise-induced myoglobinuria
Exercise intolerance
Disease(s) Associated with PFKM
glycogen storage disease VII

Mouse Phenotypes
impaired exercise endurance
increased cardiac muscle glycogen level
decreased insulin secretion
increased circulating bilirubin level
increased circulating glucose level
decreased circulating insulin level
decreased circulating lactate level
increased lactate dehydrogenase level
hypoxia
abnormal glucose homeostasis
impaired glucose tolerance
increased skeletal muscle glycogen level
Availability Mouse Genotype
PfkmGT(OST56064)Lex/PfkmGT(OST56064)Lex
Pfkmtm1Fbos/Pfkmtm1Fbos

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory